Neurofilament light chain protein and hereditary transthyretin-mediated amyloidosis

Takeaway

Neurofilament light chain (NfL) may be a potential biomarker of nerve damage and polyneuropathy in hereditary transthyretin-mediated amyloidosis (ATTRv), and may facilitate disease progression monitoring.

Why this matters

  • ATTRv is a rare, progressively debilitating, fatal disease caused by transthyretin gene mutations, resulting in amyloid fibril accumulation throughout the body and multiple organ and tissue damage; however due to this condition’s mixed phenotype, it is difficult to predict disease onset and progression in individual patients.

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